by Jeanne Olson, RN

​Genetic testing has expanded greatly in the past few years. BRCA1 & BRCA2 were the only genes tested for breast cancer in the past. Genetic testing panels are now standard. Only one out of ten (10%) women diagnosed with breast cancer have a genetic predisposition measurable by genetic testing.

Genes related to breast cancer development now include ATM, CDH1, CHEK2, PALB2, PTEN, STK11, TP53, NBN, NF1, in addition to BRCA1 & BRCA2. All of these genes have a different penetrance level, there are varying percentages of risk.

Cancer genetic panel testing also include the genes for cancers affecting colon/gastric, pancreatic, prostate, melanoma, ovarian/uterine and others. Most genes affect more than one body system.

The American Society of Breast Surgeons (ASBS) published a consensus statement this spring, stating all women with a diagnosis of breast cancer, regardless of age should be genetically tested. For those women who were tested previously only for BRCA1 & 2, they should be offered updated panel testing. It is felt that of the 10% noted above, only half of those were being identified due to the restrictive insurance company policies.
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Genetic testing is offered locally at the cancer treatment centers, as well as the breast centers, and some primary care offices. Samples of either blood or saliva can be submitted for DNA sampling.

If you were tested for BRCA1 & BRCA2 only in the past, check with your physician about having expanded panel testing.
Genetic testing results fall into three categories: A positive/pathogenic variant, a negative result and then variants of uncertain significance (VUS).
• For those with a positive/pathogenic variant, genetic counseling is recommended. Genetic counseling can be obtained by an in-person visit – typically in Cedar Rapids, Iowa City or Mayo Clinic.
The Genetic testing companies may also offer genetic counseling via phone with a certified genetic counselor.

• A negative result is reassuring, but it doesn’t mean the patient is “off the hook” for developing any of the cancers affiliated with the genes tested, but it does mean the patient does not have a genetic predisposition to that cancer development.

• VUS – variant of uncertain significance is essentially a negative report. These variants are not actionable. VUS are followed by the genetic testing companies and over time, some of these will be upgraded to a positive/pathogenic variant, others may be downgraded to negative. When there are changes to a VUS, the ordering physician is notified. That provider’s office will notify the patient of the change. Inheriting a positive/pathogetic variant, for many of the common cancer genes, is a 50/50 chance.

If a patient is negative, her children are negative. If a patient is positive, her children would have a 50% chance of also having the same gene mutation. Costs have decreased dramatically as well. $4,000 was a commonly billed amount in the past.

Some companies will provide testing for $250 or possibly less. There is significant market share competition with the various testing companies, each have their own offers. Health insurance providers are prohibited by law from discriminating against patients with a pathologic genetic variant. This same protection is not available for life, disability and long-term care insurance.

When a patient is seeking genetic testing and has not had a cancer diagnosis, it is recommended they have these insurance policies in place before testing. Not disclosing genetic testing results on applications is fraud, a criminal offense. There are reports of Medicare fraud, where patients are contacted unsolicited, usually by phone, telling them because they have had breast cancer, they can be tested from home.

These fraudulent callers already have the patient’s Medicare number and other demographic information. If the patient agrees, a kit is sent to them, once returned, some do get a report. But there are instances of Medicare paying for the testing, but the patient never receiving a report.

​The Office of Inspector General (OIG) has open cases regarding this fraudulent activity, including locally. The recommendation is to always have your testing with a medical provider. Do not accept phone calls offering testing. The genetic/ancestry testing that is commercially available is also not recommended as those labs are not accredited with Clinical Laboratory Improvement Amendments (CLIA).
To read the complete consensus statement of the American Society of Breast Surgeons (ASBS) issued this spring can be found at https://www.breastsurgeons.org /docs/statements/ConsensusGuideline-on-Genetic-Testingfor-Hereditary-BreastCancer.pdf
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​A survivor’s story by Angela Hamilton

My name is Angela Hamilton and I am a breast cancer survivor! My cancer was caught during a routine mammogram in July 2009. My next appointments were to have an ultrasound, biopsy, and a meeting with a surgeon. When I left that biopsy appointment, I could sense something was wrong and knew my life was about to change in a big way. But also knew that I had to keep my same routine so that I would not send shockwaves thru my family. You see, we had lost my mom to heart disease in 2001, my grandparents, a cousin and my dad to cancer in 2007. Too much loss and I wasn’t ready to accept cancer into my family again.

Well, I did hear those dreaded words – “You have cancer.” I cried, I prayed, and I listened. During the time between my diagnosis and surgery I would take walks on the bike trail and one day as I was walking, I stopped at the bench my neighborhood had place in memory of Michelle Friedley*. As I sat on that bench, I cried, I prayed, and I listened. It was at that point that I knew I had to be strong – not just for me, but to prove to my kids that cancer was not a death sentence and I would beat this!

I had surgery followed by 37 radiation treatments. I did genetic testing and Oncotype DX testing to help determine if chemotherapy was needed – although no cancer was found in my lymph nodes, chemotherapy was still a possibility. Once again, I returned to that bench – to cry, to pray, and to listen. I decided no to the “traditional” chemotherapy and entered a clinical trial. During all of this I relied on the support of my family and friends to help me get thru the physical aspects of this disease and its treatments.

I have the best support system – a patient and loving husband, two awesome kids, extended family, great friends, neighbors, and coworkers already to lend a hand. My friends organized meals and kept me exercising to fight against the fatigue. My co-workers were there to let me cry when I needed, and to dig into my workload for me. I even had a friend tell me that if I had to lose my hair, the she would too – lucky for her I didn’t go that route!!

Even with all these amazing people surrounding me I still felt lonely. Once again, I returned to the bench – to cry, to pray, and to listen. I had heard about the Beyond Pink TEAM, Touch of Courage, and the Young Cancer Survivors while going through radiation treatments, but knew I wasn’t ready at that time to share my story. I was still trying to accept and understand the diagnosis myself. I started reading and learning as much as I could, and while reading, “Dear God, They Say Its Cancer”, by Janet Thompson, I realized I needed the emotional support that could only come from someone who had heard those dreadful words.

So, in January 2010, I attended my first Touch of Courage support group and my first Young Cancer Survivors – both times shaking in my shoes and emotional. What I soon realized was that even though our stories may be different, the theme is still the same – lives interrupted, sleepless nights, racing minds, and a “sisterhood” that I really didn’t understand until it became my own. Now I make it a priority to attend those meetings – partly to share my story and experiences, but more in the hopes that it will help just one other person to get out of the loneliness of a cancer diagnosis and to keep learning.

I continue to return to that bench – sometimes to cry, but more to pray and to listen these days. Thank you to all who show support for those battling, those we’ve lost, and for your support of the Beyond Pink TEAM. Without them and the ladies in the Touch of Courage and Young Cancer Survivors, I think I would still be searching. Thanks to them I know that as I continue with my journey and survivorship I don’t ever have to feel alone.

*The bench Angela mentions in her story was placed in memory of Michelle Friedley. In 2006, the Cedar Falls downtown merchants, and Community Main Street held the first Pink Ribbon Run in honor of Michelle. Her mother, Pam Dowie, suggested funds raised be donated to the Beyond Pink TEAM. Pam had been attending Beyond Pink TEAM meetings, learning more about the organization and sharing Michelle’s story and a need for a support group for young mothers and working women.  The rest, they say is history.